ClinVar Miner

Variants with conflicting interpretations "likely pathogenic" from UCLA Clinical Genomics Center, UCLA and "likely benign" from any submitter

Minimum review status of the submission from UCLA Clinical Genomics Center, UCLA: Collection method of the submission from UCLA Clinical Genomics Center, UCLA:
Minimum review status of the other submission: Collection method of the other submission:
ClinVar version:
Total variants with conflicting interpretations: 3
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HGVS dbSNP gnomAD frequency
NM_001134831.2(AHI1):c.3257A>G (p.Glu1086Gly) rs148000791 0.00115
NM_014946.4(SPAST):c.1625A>G (p.Asp542Gly) rs142053576 0.00024
NM_053025.4(MYLK):c.2149G>T (p.Asp717Tyr) rs150936840

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